Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: IDUA: 1037T>G; Leu346Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

International Journal Of Molecular Sciences

Chuang, Chih-Kuang CK; Tu, Yuan-Rong YR; Lee, Chung-Lin CL; Lo, Yun-Ting YT; Chang, Ya-Hui YH; Liu, Mei-Ying MY; Liu, Hsin-Yun HY; Chen, Hsiao-Jan HJ; Kao, Shu-Min SM; Wang, Li-Yun LY; Ho, Huey-Jane HJ; Lin, Hsiang-Yu HY; Lin, Shuan-Pei SP

Publication Date: 2022-09-01

Variant appearance in text: IDUA: 1037T>G; L346R

PubMed Link: 36077388

Variant Present in the following documents:

• Main text
• ijms-23-09979.pdf

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Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I.

Journal Of Personalized Medicine

Lin, Cheng-Yung CY; Lin, Hsiang-Yu HY; Chuang, Chih-Kuang CK; Zhang, Po-Hsiang PH; Tu, Yuan-Rong YR; Lin, Shuan-Pei SP; Tsai, Huai-Jen HJ

Publication Date: 2022-07-23

Variant appearance in text: IDUA: L346R; rs121965033

PubMed Link: 35893292

Variant Present in the following documents:

• Main text
• jpm-12-01199.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: IDUA: 1037T>G

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Frontiers In Molecular Biosciences

Voskoboeva, E Yu EY; Bookina, T M TM; Semyachkina, A N AN; Mikhaylova, S V SV; Vashakmadze, N D ND; Baydakova, G V GV; Zakharova, E Yu EY; Kutsev, S I SI

Publication Date: 2021

Variant appearance in text: IDUA: 1037T>G; Leu346Arg

PubMed Link: 35141277

Variant Present in the following documents:

• Main text
• fmolb-08-783644.pdf

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Angle-closure glaucoma with attenuated mucopolysaccharidosis type I in a Chinese family.

International Journal Of Ophthalmology

Liu, Yan Y; Dai, Li L; Long, Ran R; Quan, Fu F; Gu, Chao C; Yu, Ling L

Publication Date: 2021

Variant appearance in text: IDUA: 1037T>G; Leu346Arg

PubMed Link: 34804874

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.

Diagnostics (Basel, Switzerland)

Chuang, Chih-Kuang CK; Lee, Chung-Lin CL; Tu, Ru-Yi RY; Lo, Yun-Ting YT; Sisca, Fran F; Chang, Ya-Hui YH; Liu, Mei-Ying MY; Liu, Hsin-Yun HY; Chen, Hsiao-Jan HJ; Kao, Shu-Min SM; Wang, Li-Yun LY; Ho, Huey-Jane HJ; Lin, Hsiang-Yu HY; Lin, Shuan-Pei SP

Publication Date: 2021-08-31

Variant appearance in text: IDUA: 1037T>G

PubMed Link: 34573925

Variant Present in the following documents:

• Main text
• diagnostics-11-01583.pdf

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: IDUA: L346R

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Epidemiology of Mucopolysaccharidoses Update.

Diagnostics (Basel, Switzerland)

Çelik, Betul B; Tomatsu, Saori C SC; Tomatsu, Shunji S; Khan, Shaukat A SA

Publication Date: 2021-02-10

Variant appearance in text: IDUA: 1037T>G; L346R

PubMed Link: 33578874

Variant Present in the following documents:

• Main text
• diagnostics-11-00273.pdf

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: rs121965033

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: IDUA: 1037T>G; rs121965033

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Mucopolysaccharidosis Type I.

Diagnostics (Basel, Switzerland)

Kubaski, Francyne F; de Oliveira Poswar, Fabiano F; Michelin-Tirelli, Kristiane K; Matte, Ursula da Silveira UDS; Horovitz, Dafne D DD; Barth, Anneliese Lopes AL; Baldo, Guilherme G; Vairo, Filippo F; Giugliani, Roberto R

Publication Date: 2020-03-16

Variant appearance in text: IDUA: Leu346Arg

PubMed Link: 32188113

Variant Present in the following documents:

• Main text
• diagnostics-10-00161.pdf

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Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.

Molecular Genetics & Genomic Medicine

Zhou, Yong-An YA; Li, Ping P; Zhang, Yanping Y; Xiong, Qiuhong Q; Li, Chao C; Zhao, Zhonghua Z; Wang, Yuxian Y; Xiao, Han H

Publication Date: 2020-01

Variant appearance in text: IDUA: L346R

PubMed Link: 31758674

Variant Present in the following documents:

• Main text
• MGG3-8-e1058.pdf

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Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

The Journal Of Pediatrics

Chan, Min-Ju MJ; Liao, Hsuan-Chieh HC; Gelb, Michael H MH; Chuang, Chih-Kuang CK; Liu, Mei-Ying MY; Chen, Hsiao-Jan HJ; Kao, Shu-Min SM; Lin, Hsiang-Yu HY; Huang, You-Hsin YH; Kumar, Arun Babu AB; Chennamaneni, Naveen Kumar NK; Pendem, Nagendar N; Lin, Shuan-Pei SP; Chiang, Chuan-Chi CC

Publication Date: 2019-02

Variant appearance in text: IDUA: 1037T>G; L346R

PubMed Link: 30409495

Variant Present in the following documents:

• Main text

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Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.

Orphanet Journal Of Rare Diseases

Chuang, Chih-Kuang CK; Lin, Hsiang-Yu HY; Wang, Tuan-Jen TJ; Huang, You-Hsin YH; Chan, Min-Ju MJ; Liao, Hsuan-Chieh HC; Lo, Yun-Ting YT; Wang, Li-Yun LY; Tu, Ru-Yi RY; Fang, Yi-Ya YY; Chen, Tzu-Lin TL; Ho, Hui-Chen HC; Chiang, Chuan-Chi CC; Lin, Shuan-Pei SP

Publication Date: 2018-05-25

Variant appearance in text: IDUA: 1037T>G; L346R

PubMed Link: 29801497

Variant Present in the following documents:

• Main text
• 13023_2018_Article_816.pdf

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: IDUA: 1037T>G; Leu346Arg; rs121965033

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases

Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB

Publication Date: 2017-07-04

Variant appearance in text: IDUA: L346R; rs121965033

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

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Epidemiology of mucopolysaccharidoses.

Molecular Genetics And Metabolism

Khan, Shaukat A SA; Peracha, Hira H; Ballhausen, Diana D; Wiesbauer, Alfred A; Rohrbach, Marianne M; Gautschi, Matthias M; Mason, Robert W RW; Giugliani, Roberto R; Suzuki, Yasuyuki Y; Orii, Kenji E KE; Orii, Tadao T; Tomatsu, Shunji S

Publication Date: 2017-07

Variant appearance in text: IDUA: L346R

PubMed Link: 28595941

Variant Present in the following documents:

• Main text

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Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

Bmc Medical Genetics

Kwak, Min Jung MJ; Huh, Rimm R; Kim, Jinsup J; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2016-08-12

Variant appearance in text: IDUA: 1037T>G; L346R

PubMed Link: 27520059

Variant Present in the following documents:

• Main text
• 12881_2016_Article_319.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IDUA: L346R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Nature Chemical Biology

Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN

Publication Date: 2013-11

Variant appearance in text: IDUA: L346R

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

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Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Genetics And Molecular Biology

Sun, Luning L; Li, Chunyi C; Song, Xiaoyu X; Zheng, Ningning N; Zhang, Haipeng H; Dong, Guizhang G

Publication Date: 2011-04

Variant appearance in text: IDUA: L346R

PubMed Link: 21734815

Variant Present in the following documents:

• Main text
• gmb-34-2-195.pdf

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